Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4.

Journal: Investigative ophthalmology & visual science
PMID:

Abstract

PURPOSE: To characterize the clinical effects of two RP1L1 hotspots in patients with East Asian occult macular dystrophy (OMD).

Authors

  • Yu Fujinami-Yokokawa
    Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Kwangsic Joo
    Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Republic of Korea.
  • Xiao Liu
  • Kazushige Tsunoda
    Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Mineo Kondo
    Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
  • Seong Joon Ahn
    Department of Ophthalmology, Hanyang University Hospital, Hanyang University College of Medicine, Seoul, Republic of Korea.
  • Anthony G Robson
    UCL Institute of Ophthalmology, London, United Kingdom.
  • Izumi Naka
    Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Tokyo, Japan.
  • Jun Ohashi
    Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Tokyo, Japan.
  • Hui Li
    Department of Ophthalmology, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, China.
  • Lizhu Yang
    Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Gavin Arno
    UCL Institute of Ophthalmology, University College London, London, UK.
  • Nikolas Pontikos
    University College London Institute of Ophthalmology, London, UK n.pontikos@ucl.ac.uk.
  • Kyu Hyung Park
    Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.
  • Michel Michaelides
    University College London Institute of Ophthalmology, London, UK.
  • Hisateru Tachimori
    Endowed Course for Health System Innovation, Keio University School of Medicine, Tokyo, Japan.
  • Hiroaki Miyata
    Department of Health Policy Management, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
  • Ruifang Sui
    Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Se Joon Woo
    Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Republic of Korea.
  • Kaoru Fujinami
    Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan k.fujinami@ucl.ac.uk.